Q13601
Gene name |
KRR1 (HRB2) |
Protein name |
KRR1 small subunit processome component homolog |
Names |
HIV-1 Rev-binding protein 2, KRR-R motif-containing protein 1, Rev-interacting protein 1, Rip-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11103 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q13601
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7MQ8 | EM | 360 A | NY | 1-381 | PDB |
| 7MQ9 | EM | 387 A | NY | 1-381 | PDB |
| AF-Q13601-F1 | Predicted | AlphaFoldDB |
297 variants for Q13601
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs763042419 CA6693313 |
2 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385814439 rs763042419 |
2 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs980660589 CA239316695 |
2 | A>V | No |
ClinGen TOPMed |
|
|
rs769934831 CA6693311 |
3 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6693312 rs773362154 |
3 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs980996973 CA385814407 |
4 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6693310 rs748668238 |
4 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs980996973 CA239316685 |
4 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385814387 COSM1299866 rs1309560214 |
5 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1374062751 CA385814378 |
6 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1374062751 CA385814379 |
6 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs769201553 CA6693308 |
7 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780242758 CA6693306 |
8 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6693307 rs780242758 |
8 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758092492 CA6693305 |
9 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs749988147 CA6693304 |
10 | E>G | No |
ClinGen ExAC TOPMed |
|
|
rs1165441053 CA385814328 |
10 | E>Q | No |
ClinGen gnomAD |
|
|
CA6693302 rs756758474 |
11 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6693301 rs200760522 |
11 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 12 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764001652 CA6693300 |
12 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140534370 CA6693298 |
13 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs140534370 CA385814277 |
13 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6693297 rs767163062 |
13 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1234203493 CA385814253 |
14 | G>R | No |
ClinGen TOPMed |
|
|
CA6693296 rs763247888 |
15 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA385814209 rs1207936006 |
16 | S>G | No |
ClinGen gnomAD |
|
|
CA385814193 rs1355412947 |
16 | S>R | No |
ClinGen gnomAD |
|
|
CA239316624 rs867762931 |
20 | N>T | No |
ClinGen Ensembl |
|
|
CA6693295 rs773238416 |
20 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1241930793 CA385814114 |
21 | Q>K | No |
ClinGen gnomAD |
|
|
CA6693294 rs770064660 |
23 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777326564 CA6693292 |
25 | P>A | No |
ClinGen ExAC |
|
|
CA385812768 rs1374324789 |
32 | E>K | No |
ClinGen TOPMed |
|
|
rs762022873 CA6693270 |
33 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA385812738 TCGA novel rs1594070512 |
34 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA6693268 COSM1364232 rs375387200 |
35 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1262158200 CA385812723 |
35 | T>S | No |
ClinGen gnomAD |
|
|
CA6693266 rs775857215 |
36 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 36 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218125523 CA385812694 |
37 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs998489326 CA239314373 |
39 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA385812599 rs776489825 |
43 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA239314359 rs776489825 |
43 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6693264 rs17115182 |
43 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6693262 rs770604908 COSM3739880 |
44 | A>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs759423516 CA239314346 |
45 | F>* | No |
ClinGen gnomAD |
|
|
rs748887670 CA6693261 |
47 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1042725976 CA239314337 |
50 | N>S | No |
ClinGen TOPMed |
|
|
CA239314325 rs949822941 |
51 | P>H | No |
ClinGen TOPMed |
|
|
CA385812471 rs949822941 |
51 | P>R | No |
ClinGen TOPMed |
|
|
CA239314312 rs947055632 |
53 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6693260 rs777274509 |
53 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA239314307 rs915557862 |
55 | L>S | No |
ClinGen Ensembl |
|
|
CA385812272 rs1418588553 |
59 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 60 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385812238 rs1182219021 |
60 | F>Y | No |
ClinGen gnomAD |
|
|
rs549769836 CA6693257 |
61 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239314280 rs549769836 |
61 | A>T | Variant assessed as Somatic; 9.252e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA385812157 rs766235946 |
63 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6693254 rs766235946 |
63 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239314266 rs930571667 |
68 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA239314260 rs17851432 |
69 | E>G | No |
ClinGen Ensembl |
|
|
CA6693253 rs757568169 |
72 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1272825497 CA385811942 |
73 | K>E | No |
ClinGen gnomAD |
|
|
CA6693252 rs754046671 |
74 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1282670313 CA385811754 |
79 | V>A | No |
ClinGen gnomAD |
|
|
CA6693250 rs150984893 |
81 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760659380 CA6693249 |
82 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6693248 rs371580619 |
83 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 84 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464053060 CA385811630 |
84 | N>S | No |
ClinGen gnomAD |
|
|
CA6693246 rs760053121 |
85 | E>G | No |
ClinGen ExAC |
|
|
CA239314206 rs928486257 |
86 | H>R | No |
ClinGen TOPMed |
|
|
rs901920174 CA239312852 |
87 | H>R | No |
ClinGen TOPMed |
|
|
rs761486193 CA6693217 |
87 | H>Y | No |
ClinGen ExAC |
|
|
rs1288447103 CA385810748 |
89 | N>D | No |
ClinGen gnomAD |
|
|
CA385810732 rs1316452407 |
90 | A>T | No |
ClinGen gnomAD |
|
|
rs776026711 CA6693209 |
90 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6693208 rs768145943 |
91 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1302392218 CA385810674 |
93 | D>E | No |
ClinGen gnomAD |
|
|
rs780127865 CA6693206 |
95 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs141363529 CA6693204 |
96 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1452569798 CA385810625 |
97 | G>S | No |
ClinGen gnomAD |
|
|
rs778731569 CA6693203 |
99 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs559522979 CA239312805 |
105 | K>* | No |
ClinGen gnomAD |
|
|
rs752910893 CA6693201 |
106 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752116384 CA6693198 |
111 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752116384 CA6693199 |
111 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239312743 rs914536259 |
112 | I>S | No |
ClinGen Ensembl |
|
|
rs914536259 CA385810346 |
112 | I>T | No |
ClinGen Ensembl |
|
|
CA6693196 rs763346738 |
112 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6693195 rs114239473 |
113 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385810282 rs1468644744 |
115 | R>K | No |
ClinGen TOPMed |
|
|
rs761376479 CA6693193 |
124 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 126 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385810025 rs1283686002 |
129 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs775611984 CA6693189 |
131 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6693141 rs774337591 |
132 | A>G | No |
ClinGen ExAC |
|
|
CA6693142 rs759400330 |
132 | A>S | No |
ClinGen ExAC |
|
|
rs749084587 CA6693139 |
133 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs11540407 VAR_049680 CA6693138 |
134 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA385809820 rs1242673336 |
136 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1319278521 CA385809768 |
138 | D>G | No |
ClinGen TOPMed |
|
|
CA239312380 rs554807424 |
138 | D>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA385809741 rs1248348155 |
139 | D>G | No |
ClinGen gnomAD |
|
|
rs1248348155 CA385809738 |
139 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385809722 rs1195110433 |
140 | V>I | No |
ClinGen gnomAD |
|
|
CA239312374 rs778224926 |
141 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA385809711 rs778224926 |
141 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1016978782 CA239312372 |
142 | C>R | No |
ClinGen Ensembl |
|
|
CA6693136 rs768895750 |
143 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs768895750 CA385809673 |
143 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs747184760 CA6693135 |
146 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs780120414 CA6693133 |
148 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6693131 rs746421178 |
149 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6693132 rs746421178 |
149 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs774242188 CA239312326 |
152 | R>G | No |
ClinGen Ensembl |
|
|
CA385809476 rs1391289689 |
153 | N>D | No |
ClinGen gnomAD |
|
|
CA385809468 rs1391967461 |
153 | N>I | No |
ClinGen gnomAD |
|
|
rs757605341 CA385809462 |
153 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6693128 rs754262328 |
154 | K>R | No |
ClinGen ExAC |
|
|
CA239312315 rs115453918 |
159 | K>R | No |
ClinGen 1000Genomes |
|
|
rs1006843823 CA385809321 |
160 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1006843823 CA239312305 |
160 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA385809320 rs1441652902 |
160 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs954096801 CA239312300 |
161 | R>G | No |
ClinGen gnomAD |
|
|
CA385809308 rs1398418992 |
161 | R>K | No |
ClinGen TOPMed |
|
|
rs1271622488 CA385809285 |
162 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385809268 rs1181050757 |
163 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6693126 rs114719907 |
163 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755848514 CA6693125 |
167 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA385809197 rs1334373011 |
168 | K>E | No |
ClinGen TOPMed |
|
|
rs200862058 CA6693124 |
168 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs370067745 COSM1513133 CA6693123 |
169 | G>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1490108584 CA385809162 |
170 | S>Y | No |
ClinGen gnomAD |
|
|
rs758128238 CA239312262 |
171 | T>A | No |
ClinGen Ensembl |
|
|
rs759069916 CA385809126 |
172 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1352986918 CA385809137 |
172 | L>M | No |
ClinGen TOPMed |
|
|
CA6693122 rs759069916 |
172 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA6693106 rs780966094 |
174 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6693103 rs765756898 |
176 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs765074465 CA6693099 |
180 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs761575297 CA6693098 |
181 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA239312163 rs200385352 |
183 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6693096 rs772372057 |
186 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6693095 rs148121880 |
186 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1208433509 CA6693093 |
190 | V>I | No |
ClinGen Ensembl |
|
|
CA239312132 rs369851209 |
191 | S>P | No |
ClinGen ESP TOPMed |
|
|
CA6693092 rs774506696 |
193 | I>V | No |
ClinGen ExAC |
|
|
rs770852853 CA6693091 |
196 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 197 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6693090 rs749880529 |
197 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 198 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866858892 CA239312107 |
198 | G>V | No |
ClinGen Ensembl |
|
|
rs1468083261 CA385808624 |
200 | K>E | No |
ClinGen TOPMed |
|
|
CA6693071 rs376056617 |
205 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415938217 CA385808021 |
210 | M>I | No |
ClinGen TOPMed |
|
|
CA6693068 rs777069443 |
210 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6693069 rs748619176 |
210 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6693067 rs768837362 |
212 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs771353668 CA239311371 |
212 | N>S | No |
ClinGen TOPMed |
|
|
CA239311394 rs771353668 |
212 | N>T | No |
ClinGen TOPMed |
|
|
rs1452024737 CA385807973 |
213 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746743291 CA6693066 |
215 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1299851554 CA385807937 |
215 | P>Q | No |
ClinGen gnomAD |
|
|
CA6693064 rs544886803 |
217 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6693031 rs748618258 |
221 | S>* | No |
ClinGen ExAC |
|
|
rs201035934 CA6693029 |
223 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1316361236 CA385807608 |
226 | R>T | No |
ClinGen gnomAD |
|
|
rs1225230836 CA385807585 |
227 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6693028 rs376593401 |
227 | E>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385807542 rs1282383203 |
230 | K>I | No |
ClinGen gnomAD |
|
|
rs372563816 CA239310431 |
231 | D>E | No |
ClinGen ESP TOPMed |
|
|
rs1363642515 CA385807532 |
231 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 231 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA239310422 rs901056089 |
235 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6693024 rs188885620 |
235 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6693023 rs188885620 |
235 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs17853239 CA239310405 |
247 | K>R | No |
ClinGen Ensembl |
|
|
CA6693020 rs765481167 |
248 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs761971509 CA6693019 |
252 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs777235058 CA6693018 |
253 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM75183 rs368830982 CA6693017 |
254 | R>C | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs761193901 CA6693016 COSM1364229 |
254 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6693015 rs775728423 |
255 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772354362 CA6693014 |
257 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1262355242 CA385807138 |
257 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 258 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773976000 CA6693012 |
260 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 261 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1050532182 CA239310374 |
265 | E>G | No |
ClinGen TOPMed |
|
|
CA385807012 rs1338119127 |
265 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs748720677 CA6693008 |
266 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551077175 CA6693007 |
267 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6693002 rs750732688 |
273 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438977017 CA385806863 |
273 | Q>K | No |
ClinGen TOPMed |
|
|
CA239310292 rs940122183 |
274 | P>R | No |
ClinGen Ensembl |
|
|
rs17853240 CA239310287 |
275 | E>K | No |
ClinGen Ensembl |
|
|
CA385806798 rs1185504419 |
276 | S>I | No |
ClinGen gnomAD |
|
|
CA6692983 rs768623012 |
278 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746830762 CA6692982 |
278 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs779945359 CA6692981 |
279 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs373922981 CA6692977 |
284 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6692978 rs373922981 |
284 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1450653214 CA385806493 |
288 | F>L | No |
ClinGen gnomAD |
|
|
rs753248715 CA6692976 |
289 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA6692973 rs139059786 |
293 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1566103851 CA385806377 |
294 | K>E | No |
ClinGen Ensembl |
|
|
CA6692972 rs751946450 |
294 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385806352 rs1481761266 |
295 | K>R | No |
ClinGen TOPMed |
|
|
rs370477950 CA6692970 |
296 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs577073370 CA6692971 |
296 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6692968 rs764714445 |
298 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1003764963 CA239308877 |
299 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385806279 rs1003764963 |
299 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA385806259 rs1414311297 |
300 | E>G | No |
ClinGen TOPMed |
|
|
rs375580761 CA6692966 |
301 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1362010247 CA385806231 |
302 | I>M | No |
ClinGen gnomAD |
|
|
CA385806233 rs1566103813 |
302 | I>T | No |
ClinGen Ensembl |
|
|
CA6692965 rs535120586 |
302 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385806224 rs372522544 |
303 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6692942 rs1594066725 |
304 | A>A | No |
ClinGen Ensembl |
|
|
CA6692943 rs373507415 |
304 | A>D | No |
ClinGen ESP TOPMed |
|
|
CA6692941 rs570700905 |
307 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA239305443 rs570700905 |
307 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6692939 rs773973140 |
310 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6692938 rs770080673 |
311 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6692937 rs781256310 |
311 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6692936 rs781256310 |
311 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6692935 rs369198555 |
312 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747573872 CA6692934 |
312 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA385805841 rs1389090924 |
316 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 316 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758729953 CA6692932 |
317 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1462223482 CA385805782 |
320 | A>T | No |
ClinGen gnomAD |
|
|
CA385805774 rs1245540882 |
320 | A>V | No |
ClinGen gnomAD |
|
|
CA385805720 rs1202291662 |
323 | P>L | No |
ClinGen gnomAD |
|
|
rs750831850 CA6692931 |
324 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1194518608 CA385805643 |
328 | P>R | No |
ClinGen TOPMed |
|
|
CA239305360 rs376955252 |
329 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376955252 CA6692929 |
329 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765462145 CA6692930 |
329 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6692928 rs753534788 |
330 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6692927 rs763753001 |
334 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs376672311 CA239303309 |
335 | A>V | No |
ClinGen ESP |
|
|
CA6692899 rs779398848 |
336 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1400723533 CA385805508 |
337 | T>A | No |
ClinGen gnomAD |
|
|
rs1212848424 CA385805502 |
338 | E>A | No |
ClinGen TOPMed |
|
|
rs757680953 CA6692898 |
338 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA239303290 rs17853238 |
339 | T>A | No |
ClinGen TOPMed |
|
|
rs17853238 CA385805496 |
339 | T>S | No |
ClinGen TOPMed |
|
|
CA385805491 rs1405717582 |
340 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 340 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6692897 rs753590345 |
341 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1200492532 CA385805479 |
341 | I>M | No |
ClinGen gnomAD |
|
|
CA385805482 rs1251518165 |
341 | I>T | No |
ClinGen gnomAD |
|
|
rs1263838033 CA385805468 |
343 | V>L | No |
ClinGen gnomAD |
|
|
CA385805459 rs1220946410 |
344 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 345 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452712341 CA385805453 |
345 | S>I | No |
ClinGen TOPMed |
|
|
CA385805450 rs1286300268 |
346 | I>V | No |
ClinGen gnomAD |
|
|
rs755783070 CA6692895 |
348 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 352 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374297882 CA6692893 |
352 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751449948 CA6692891 COSM943497 |
354 | K>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs933038188 CA239303145 |
355 | N>S | No |
ClinGen TOPMed |
|
|
rs566245480 CA239303144 |
356 | K>T | No |
ClinGen Ensembl |
|
|
rs1594065032 CA919122038 |
357 | K>E | No |
ClinGen Ensembl |
|
|
rs1346422173 CA385805361 |
358 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1345880739 CA385805364 |
358 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA385805353 rs766222607 |
360 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6692888 rs766222607 |
360 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 360 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6692887 rs762715577 |
361 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385805342 rs1411776262 |
362 | T>A | No |
ClinGen gnomAD |
|
|
CA6692886 rs760760484 |
362 | T>I | No |
ClinGen ExAC |
|
|
rs760760484 CA6692883 |
362 | T>K | No |
ClinGen ExAC |
|
|
rs760760484 CA6692884 |
362 | T>R | No |
ClinGen ExAC |
|
|
rs1400358932 CA385805331 |
364 | E>A | No |
ClinGen TOPMed |
|
|
rs1177607491 CA385805334 |
364 | E>K | No |
ClinGen gnomAD |
|
|
CA239303106 rs372067400 |
365 | E>G | No |
ClinGen ESP gnomAD |
|
|
CA385805310 rs1265565227 |
367 | A>S | No |
ClinGen gnomAD |
|
|
rs775643670 CA6692882 |
368 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs772040272 CA6692881 |
368 | L>R | No |
ClinGen ExAC |
|
|
rs1201385452 CA385805298 |
369 | K>R | No |
ClinGen gnomAD |
|
|
rs1328454253 CA385805277 |
372 | A>T | No |
ClinGen TOPMed |
|
|
rs746442927 CA6692879 |
375 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 375 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs933617147 CA239303035 |
377 | K>E | No |
ClinGen Ensembl |
|
|
rs530056027 CA6692876 |
377 | K>N | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1262076078 CA385805223 |
379 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs140273898 CA6692870 |
381 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs761148574 | 381 | K>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260836798 CA385805199 |
382 | K>S | No |
ClinGen gnomAD |
No associated diseases with Q13601
1 regional properties for Q13601
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ribosome receptor lysine/proline rich | 29 - 166 | IPR007794 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| intercellular bridge | A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| small-subunit processome | A large ribonucleoprotein complex that is an early preribosomal complex. In S. cerevisiae, it has a size of 80S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3B7L9 | KRR1 | KRR1 small subunit processome component homolog | Bos taurus (Bovine) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASPSLERPE | KGAGKSEFRN | QKPKPENQDE | SELLTVPDGW | KEPAFSKEDN | PRGLLEESSF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ATLFPKYREA | YLKECWPLVQ | KALNEHHVNA | TLDLIEGSMT | VCTTKKTFDP | YIIIRARDLI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLLARSVSFE | QAVRILQDDV | ACDIIKIGSL | VRNKERFVKR | RQRLIGPKGS | TLKALELLTN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CYIMVQGNTV | SAIGPFSGLK | EVRKVVLDTM | KNIHPIYNIK | SLMIKRELAK | DSELRSQSWE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RFLPQFKHKN | VNKRKEPKKK | TVKKEYTPFP | PPQPESQIDK | ELASGEYFLK | ANQKKRQKME |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AIKAKQAEAI | SKRQEERNKA | FIPPKEKPIV | KPKEASTETK | IDVASIKEKV | KKAKNKKLGA |
| 370 | 380 | ||||
| LTAEEIALKM | EADEKKKKKK | K |